@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_head
{
this:
np:hasAssertion
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_assertion
;
np:hasProvenance
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_provenance
;
np:hasPublicationInfo
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_assertion
a
np:Assertion
.
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_provenance
a
np:Provenance
.
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_assertion
{
miriam-gene:4359
a
ncit:C16612
.
lld:C0027888
a
ncit:C7057
.
dgn-gda:DGN1f19698e6cd79bb42502bd0a9cba5a73
sio:SIO_000628
miriam-gene:4359
,
lld:C0027888
;
a
sio:SIO_001122
.
}
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_provenance
{
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_assertion
dcterms:description
"[The MPZ gene Ser44Phe mutation found in the HMSN II family presented in this study suggests that genetic analysis of HMSN II families should also include the MPZ gene, previously not considered to be involved in the axonal form of HMSN.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:9595994
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:18+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}